successful resection of a re-occurred pulmonary myosarcoma...
TRANSCRIPT
Case reportA 37-year-old female was admitted with a 3-month history of fatigue, progressive exertion dyspnoea andleft shoulder pain. Chest X-ray revealed a large pul-monary process in the left hemi-thorax. One monthbefore she underwent cardiac catheterisation, andsevere pulmonary arterial hypertension was diag-nosed with a mean pulmonary artery pressure of 75mmHg. There were no signs of coronary or valvularheart disease.
At the age of 15 months she had a biopsy-provenspindle cell soft tissue sarcoma in the posterior medi-astinum. Because of chest wall invasion a resectioncould not be performed, and she received percuta-neous thoracic radiation with a total dose of 40 Gy.In 1998, she underwent hysterectomy for a benignmyoma, and an uterus duplex and a vagina subseptawere found. In addition, she was diagnosed forprimary amenorrhoea.
On examination the patients height was 155 cm.She had a hypoplastic left hemi-thorax and mam-mary gland, most likely as a result of the radiationtherapy in childhood. Auscultation revealed dullnessand rales over the base of the left lung. A 4/6 systoliccardiac murmur on the left parasternal was present.Laboratory examinations were within normal limits.
Pulmonary function tests showed a severe restric-tive pattern (TLC 2.6 l; [56% predicted]), but capil-lary blood gases were normal (pCO2 5.8 kPa, pO2
10.3 kPa). Diffusion capacity was impaired, with atransfer factor for carbon monoxide of 53%predicted, consistent with restrictive lung disease.Pulmonary scintigraphy showed a highly reducedperfusion of the left lung with a distribution of 8% onthe left and 92% on the right lung, but no signs ofpulmonary embolism.
Thoracic MRI revealed a 10 ´ 7 ´ 5cm lesionextending to the pericardium, the diaphragm and thethoracic wall without signs of in� ltration (Fig. 1).
There were no focal lesions detected on abdominalultrasound, bronchoscopy, skeletal scintigraphy andliver MRI.
Ultrasound-guided transthoracic biopsy of thetumour revealed a malignant sarcoma.
The patient underwent left pneumonectomy withpartial resection of the diaphragm and the peri-cardium due to tumour adhesion. Intraoperatively,a patent ductus Botalli (PDA) was found and subsequently occluded.
Histology revealed a pleomorphic myogenicsarcoma of the lung neither in� ltrating the pleura normetastasising into the hilar or mediastinal lymph
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Sarcoma (2002) 6, 141–143
CASE REPORT
Successful resection of a re-occurred pulmonary myosarcoma ina patient with Turner syndrome mosaic
VOLKER F.H. BRAUER1, FRANK REICHENBERGER1, ANKE MÜLLER2, MATTHIASSTEINERT3, URSULA G. FROSTER4, HUBERT R.W.WIRTZ1 & JOACHIM SCHAUER1
1Division of Pneumology, Department of Medicine, 2Institute of Pathology, 3Division of Thoracic Surgery, Departmentof Surgery and 4Institute of Human Genetics, University Hospital Leipzig, Leipzig, Germany
AbstractWe describe a patient who underwent thoracic radiation therapy for biopsy-proven pulmonary spindle cell sarcoma in theleft lower lobe, 15 months after birth. At the age of 37 she developed shoulder pain, fatigue, and progressive exertion dysp-noea. Chest X-ray revealed a pulmonary mass in the left lower lobe due to a cytology-proven malignant tumour.The patientunderwent left pneumonectomy. Histology revealed a myosarcoma of the lung, similar to the previous sarcoma.Furthermore, the patient was diagnosed to have Turner syndrome mosaic and chromosomal analysis revealed a transloca-tion t(1;13) in 3/50 metaphases. However a germline mutation of the p53 tumour suppressor gene was excluded. After 2years of follow-up the patient is stable and there are no signs of recurrence of the tumour. We conclude a re-occurrence ofthis very rare malignant disorder of the lung after a 36-year interval in a patient with Turner syndrome mosaic. Followinginitial curative radiation therapy, with a remission over 36 years, lung resection was now successfully performed.
Key words: pulmonary myosarcoma, pulmonary hypertension,Turner syndrome
Correspondence to:Volker F.H. Brauer, Department of Internal Medicine III, University Hospital Leipzig, Philipp-Rosenthal-Str. 27, 04103Leipzig, Germany. Tel.: +49-341-97-13116; Fax: +49-341-97-13119; E-mail: [email protected]
ISSN 1357–714X print/ISSN 1369–1643 online/02/0200141–03 © Taylor & Francis LtdDOI: 10.1080/1357714021000066395
nodes (stage I, Table 1; Fig. 2). Immunohistology was positive for vimentin, desmin, a -sarcomere actinand anti-muscle actin and negative for a -smoothmuscle actin. The proliferation rate was nearly 60%.
A germline p53 mutation was excluded by auto-mated sequencing of exons 4–10 of the TP 53 gene(ABI 377, Perkin-Elmer®). Chromosomal analysis ofperipheral blood revealed an abnormal karyotypewith a mosaic 45,X/46,XX,t(1;13)(p36;q14) /46,XX,consistent with a cytogenetic variant of Turnersyndrome.
The further hospital stay was without complica-tions. One month postoperatively, pulmonary arterypressure had decreased to 60 mmHg by echocardio-graphy. At 2-year follow-up, the patient remainedstable without radiological signs of recurrence of thetumour. Pulmonary artery pressure furtherdecreased to 35 mmHg by echocardiography.
Discussion
Rhabdomyosarcoma is a typical extracranial solidmalignant tumour presenting during childhood.Every year, approximately 250 cases are diagnosed inthe United States. In Germany, 60–70 cases arefound annually with an incidence of 0.5%.2,3 Anintrathoracic manifestation of RMS is very rare.4
Surgical resection is the only curative therapy.Radiation therapy is indicated in microscopic orresidual disease, whereas chemotherapy is suggestedfor cytoreduction and eradication of micrometas-tases. Multimodality treatment protocols, used inclinical studies, enable disease-free survival up to70%, in cases with incomplete resection.2,5 At recur-rence of the sarcoma, 5-year survival is 40% for stageI versus 3% for any higher stage.6
In our patient, radiation therapy of inoperablesarcoma during childhood induced complete remis-sion and cure from the malignant disease for 36years.7
At the reoccurrence of the myosarcoma the patientpresented with localized disease. The tumour wascompletely resected, and there was no indication for further anticancer therapy. Left pneumonectomywas feasible despite the impaired pulmonary function,because the left lung contributed only 8% to pul-monary blood � ow and oxygenation.8 However, there
142 Brauer et al.
Fig. 1. MRI presents an approximately 10 ´ 7 ´ 5cm lesionextending to the pericardium, the diaphragm and the thoracicwall, without signs of in� ltration of the tumour. Furthermore,there is a hypoplasia of the left hemithorax and a dilatation of
the right heart.
Fig. 2. Histology reveals an undifferentiated spindle cell likesarcoma with multiple mitosis on the left side. On the right side
there is normal lung tissue with terminal bronchioles.
Table 1. Clinical group stage system for rhabdomyosarcoma (1)
Clinical group Extent of disease/surgical result
I A. Localized tumour, con� ned to site of origin, completely resected.B. Localized tumour, in� ltrating beyond site of origin, completely resected.
II A. Localized tumour, gross total resection, but with microscopic residual disease.B. Locally extensive tumour (spread to regional lymph nodes), completely resected.C. Locally extensive tumour (spread to regional lymph nodes), gross total resection, but
microscopic residual disease.III A. Localized or locally extensive tumour, gross residual disease after biopsy only.
B. Localized or locally extensive tumour, gross residual disease after major resection (50% debulking).
IV A. Any size primary tumour, with or without regional lymph node involvement, with distant metastases, irrespective of surgical approach to primary tumour.
111
was a considerable perioperative risk because of thesevere pulmonary arterial hypertension. Surgical clo-sure of the PDA was feasible after exclusion of anEisenmenger syndrome resulting in a postoperativereduction of the pulmonary artery pressure.
We regard the present tumour as a re-occurrenceof a similar tumour type in a high-risk constellationrather than a relapse after 36 years. Myosarcomashave a high local recurrence rate, and both the recentand the childhood tumour showed close histologicalsimilarities. Furthermore, chromosomal analysis wasconsistent with a variant of Turner syndrome. Thiscondition is associated with a higher rate of nongo-nadal malignancies.9,10 Our Turner syndrome-affected patient had the following clinical anomalies:short in stature (155 cm), primary infertility, heartdefect (persistent ductus Botalli), hypoplastic lefthemi-thorax and mammary gland. There were nosigns like epicanthal folds, low nuchal hair line,shield-like chest, webbed neck, high arched palate,renal anomalies, pigmented nevi or lymphedema.
The previous radiation therapy could also beregarded as a risk factor for developing a secondarymalignancy.11,12 However, a p53 germline mutation,often found in early childhood mesenchymaltumours, was not present in our patient.13, 14
Conclusion
We report the successful lung resection of a re-occur-ring pulmonary myosarcoma in a patient with Turnersyndrome. A previous radiation therapy resulted in acomplete remission for 36 years.The condition of anearlier myosarcoma, previous radiation therapy, andTurner syndrome has to be regarded as a high riskconstellation for a secondary malignancy.
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